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Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

Journal of clinical immunology, 2022-10, Vol.42 (7), p.1473-1507 [Peer Reviewed Journal]

The Author(s) 2022 ;2022. The Author(s). ;The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0271-9142 ;EISSN: 1573-2592 ;DOI: 10.1007/s10875-022-01289-3 ;PMID: 35748970

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Title:
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
Author: Tangye, Stuart G. ; Al-Herz, Waleed ; Bousfiha, Aziz ; Cunningham-Rundles, Charlotte ; Franco, Jose Luis ; Holland, Steven M. ; Klein, Christoph ; Morio, Tomohiro ; Oksenhendler, Eric ; Picard, Capucine ; Puel, Anne ; Puck, Jennifer ; Seppänen, Mikko R. J. ; Somech, Raz ; Su, Helen C. ; Sullivan, Kathleen E. ; Torgerson, Troy R. ; Meyts, Isabelle
Subjects: Autoantibodies ; Biomedical and Life Sciences ; Biomedicine ; Committees ; Diagnosis ; Humans ; Immune System Diseases ; Immunity ; Immunologic Deficiency Syndromes - diagnosis ; Immunological diseases ; Immunology ; Infectious Diseases ; Internal Medicine ; Medical Microbiology ; Molecular modelling ; Original ; Original Article ; Phenotype ; Research Report
Is Part Of: Journal of clinical immunology, 2022-10, Vol.42 (7), p.1473-1507
Description: We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 phenocopy due to autoantibodies, that have either been discovered since the previous update (published January 2020) or were characterized earlier but have since been confirmed or expanded in subsequent studies. While variants in additional genes associated with immune diseases have been reported in the literature, this update includes only those that the committee assessed that reached the necessary threshold to represent novel inborn errors of immunity. There are now a total of 485 inborn errors of immunity. These advances in discovering the genetic causes of human immune diseases continue to significantly further our understanding of molecular, cellular, and immunological mechanisms of disease pathogenesis, thereby simultaneously enhancing immunological knowledge and improving patient diagnosis and management. This report is designed to serve as a resource for immunologists and geneticists pursuing the molecular diagnosis of individuals with heritable immunological disorders and for the scientific dissection of cellular and molecular mechanisms underlying monogenic and related human immune diseases.
Publisher: New York: Springer US
Language: English
Identifier: ISSN: 0271-9142
EISSN: 1573-2592
DOI: 10.1007/s10875-022-01289-3
PMID: 35748970
Source: SpringerOpen
MEDLINE
ProQuest Central

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Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

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